40例X连锁肾上腺脑白质营养不良患者的基因型与表型.pdfVIP

北 京 大 学 学 报 （ 医 学 版 ） ·66 · JOURNAL OF PEKING UNIVERSITY（HEALTH SCIENCES ） Voi. 38 No. 1 Feb. 2006 ·论著 · The genotype and phenotype studies of 40 Chinese patients with X-linked adrenoleukodystrophy（X-ALD ） Li-ii PING ，Xin-hua BAO ，Ai-hua WANG ，Hong PAN ，Ye WU ，Hui XIONG ，Yue-hua ZHANG ，Yu-wu JIANG ，Jiong OIN ，Xi-ru WU （Department of Pediatrics ，Peking University First Hospitai ，Beijing 100034 ，China ） ABSTRACT Obiective ：To eiucidate the phenotype and the genotype-phenotype correiations in Chinese patients with X-iinked adrenoieukodystrophy （X-ALD ）. Methods ：Ciinicai features of 40 Chinese patients with X-ALD were studied and mutation spectrums were investigated by poiymerase chain reaction （PCR ） and seguencing. Results ：Among these patients ，four were sibiings from two unreiated famiiies ，the oth- ers were unreiated. There were 31 cases with chiidhood cerebrai （CCALD ），8 cases with adoiescent cer- ebrai （ACALD ）and 1 case with adrenomyeioneuropathy （AMN ）. Visuai impairment ，which presented in 12 cases （30% ），was the most common initiai symptom. Nine （69% ）of 13 cases who had hydro- cortisone and ACTH measured showed adrenai insufficiency. By foiiow-up date ，19 cases （47 . 5% ）were dead. The intervai from onset to death varied from 1 to 6 years and the average were 3. 3 years. The mean age at death was 10 . 5 years. Eieven cases （27 . 5% ）were in vegetabie state. The mean intervai from onset to apparentiy vegetabie state was 2 . 8 years （range from 1 to 6 years ）. Four cases had progres- sive neuroiogicai disabiiity. Four cases were iost foiiow-up. One case with CCALD and on